The diagnostic dilemma of cutis laxa: A report of two cases with genotypic dissimilarity

by Manisha Goyal, Ankur Singh, Uwe Kornak, Seema Kapoor
Published 2015-01-01

A novel HSPG2 splice site mutation causing Schwartz-Jampel syndrome is associated with an impaired lacunocanalicular system

by Simon von Kroge, Uwe Kornak, Michaela Schweizer, Ralf Oheim, Michael Amling, Tim Rolvien
Published 2020-10-01

TGF-β induced senescence is a novel therapeutic target for treating osteoporosis in Gerodermia Osteodysplastica

by Wing Lee Chan, Jonathan Goldes, Magdalena Steiner, Alvin C. Ma, Stefan Mundlos, Uwe Kornak
Published 2020-10-01

Development of a disease model for autosomal recessive osteopetrosis and CRISPR/Cas9-based gene therapeutic approaches in human induced pluripotent stem cells

by Floriane Hennig, Uta Rössler, Nina Stelzer, Johannes Kopp, Kent Søe, Harald Stachelscheid, Uwe Kornak
Published 2021-04-01

Chondrocytes From Osteoarthritic and Chondrocalcinosis Cartilage Represent Different Phenotypes

by Franziska Meyer, Annalena Dittmann, Uwe Kornak, Maria Herbster, Thomas Pap, Christoph H. Lohmann, Jessica Bertrand
Published 2021-04-01

Bone mass, structure and turnover in EOOP patients with LRP5/LRP6 mutations - Case series of 33 patients

by Julian Stürznickel, Tim Rolvien, Alena Delsmann, Sebastian Butscheidt, Florian Barvencik, Uwe Kornak, Michael Amling, Ralf Oheim
Published 2020-10-01

Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis

by Anna Floriane Hennig, Uta Rössler, Franziska Boiti, Maja von der Hagen, Manfred Gossen, Uwe Kornak, Harald Stachelscheid
Published 2019-03-01

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to the development of osteoarthritis

by Tim Rolvien, Timur A. Yorgan, Uwe Kornak, Irm Hermans-Borgmeyer, Stefan Mundlos, Tobias Schmidt, Andreas Niemeier, Thorsten Schinke, Michael Amling, Ralf Oheim
Published 2020-10-01

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

by Peter Hansen, Salaheddine Ali, Hannah Blau, Daniel Danis, Jochen Hecht, Uwe Kornak, Darío G. Lupiáñez, Stefan Mundlos, Robin Steinhaus, Peter N. Robinson
Published 2019-01-01

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.

by Sven Geissler, Martin Textor, Sabine Stumpp, Sebastian Seitz, Anja Lekaj, Sabrina Brunk, Sabine Klaassen, Thorsten Schinke, Christoph Klein, Stefan Mundlos, Uwe Kornak, Jirko Kühnisch
Published 2018-01-01

Lethal osteogenesis imperfecta type XX caused by compound heterozygous frameshift mutations in MESD

by Julian Stürznickel, Katharina Jaehn-Rickert, Jozef Zustin, Maximilian M. Delsmann, Helga Rehder, Anna Floriane Hennig, Katharina Schoner, Alfons Kreczy, Thorsten Schinke, Michael Amling, Uwe Kornak
Published 2021-04-01

Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal osteoclast resorption pattern due to a LRRK1 splice site mutation

by Antonia Howaldt, Anna-Floriane Hennig, Tim Rolvien, Uta Rössler, Nina Stelzer, Sebastian Böttger, Jozef Zustin, Ralf Oheim, Sven Geißler, Michael Amling, Hans-Peter Howaldt, Uwe Kornak
Published 2020-10-01

Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene

by Tim Rolvien, Osman Avci, Simon von Kroge, Till Koehne, Stefan Selbert, Stephan Sonntag, Doron Shmerling, Uwe Kornak, Ralf Oheim, Michael Amling, Thorsten Schinke, Timur Alexander Yorgan
Published 2020-06-01

The effect of a deteriorated architecture of the lacunocanalicular network on the organization and mineralization of the extracellular matrix

by Andreas Roschger, Alexander F. van Tol, Michael Thelen, Anne Seliger, Haisheng Yang, Wing Lee Chan, Tobias Thiele, Paul Roschger, Georg N. Duda, Paul Zaslansky, Uwe Kornak, Bettina M. Willie, Richard Weinkamer
Published 2020-10-01

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

by Tomasz M. Witkos, Wing Lee Chan, Merja Joensuu, Manuel Rhiel, Ed Pallister, Jane Thomas-Oates, A. Paul Mould, Alex A. Mironov, Christophe Biot, Yann Guerardel, Willy Morelle, Daniel Ungar, Felix T. Wieland, Eija Jokitalo, May Tassabehji, Uwe Kornak, Martin Lowe
Published 2019-01-01

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

by Jirko Kühnisch, Jong Seto, Claudia Lange, Susanne Schrof, Sabine Stumpp, Karolina Kobus, Julia Grohmann, Nadine Kossler, Peter Varga, Monika Osswald, Denise Emmerich, Sigrid Tinschert, Falk Thielemann, Georg Duda, Wenke Seifert, Thaqif El Khassawna, David A Stevenson, Florent Elefteriou, Uwe Kornak, Kay Raum, Peter Fratzl, Stefan Mundlos, Mateusz Kolanczyk
Published 2014-01-01

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplast...

by Wing Lee Chan, Magdalena Steiner, Tomasz Witkos, Johannes Egerer, Björn Busse, Shuji Mizumoto, Jan M Pestka, Haikuo Zhang, Ingrid Hausser, Layal Abo Khayal, Claus-Eric Ott, Mateusz Kolanczyk, Bettina Willie, Thorsten Schinke, Chiara Paganini, Antonio Rossi, Kazuyuki Sugahara, Michael Amling, Petra Knaus, Danny Chan, Martin Lowe, Stefan Mundlos, Uwe Kornak
Published 2018-03-01